CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Disease: Limb-girdle muscular dystrophy type 2A ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338800
rs80338800 		0.827 0.120 15 42387803 frameshift variant A/- delins
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 15 1995 2016
dbSNP: rs863224959
rs863224959 		1.000 0.120 15 42402971 missense variant C/G;T snv 1.6E-05 3.5E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 14 1995 2017
dbSNP: rs794727697
rs794727697 		1.000 0.120 15 42389051 inframe deletion GAA/- delins
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 13 1999 2017
dbSNP: rs148044781
rs148044781 		1.000 0.120 15 42401791 missense variant T/C snv 1.5E-04 2.5E-04
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 10 1995 2017
dbSNP: rs761637940
rs761637940 		1.000 0.120 15 42401772 missense variant G/A snv 4.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 10 1995 2017
dbSNP: rs762020512
rs762020512 		1.000 0.120 15 42359882 missense variant C/G;T snv 2.4E-05; 2.0E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 10 1995 2017
dbSNP: rs773001194
rs773001194 		1.000 0.120 15 42388944 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 10 1995 2017
dbSNP: rs863224957
rs863224957 		1.000 0.120 15 42401751 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 10 1998 2017
dbSNP: rs1345121557
rs1345121557 		1.000 0.120 15 42388959 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 9 1998 2016
dbSNP: rs146923842
rs146923842 		1.000 0.120 15 42410660 missense variant G/A snv 7.9E-04 7.2E-04
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 8 2004 2010
dbSNP: rs376107921
rs376107921 		0.925 0.120 15 42399617 missense variant G/A;C snv 6.5E-05; 4.0E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 8 2004 2014
dbSNP: rs374665929
rs374665929 		1.000 0.120 15 42399483 intron variant A/C;G snv 1.2E-05 1.4E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 1999 2015
dbSNP: rs749099493
rs749099493 		1.000 0.120 15 42394289 missense variant C/T snv 1.4E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 2005 2015
dbSNP: rs863224958
rs863224958 		1.000 0.120 15 42359951 missense variant G/A snv
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 2004 2008
dbSNP: rs868791726
rs868791726 		1.000 0.120 15 42410925 stop gained C/A;T snv 4.0E-06; 1.2E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 7 1995 2017
dbSNP: rs1274808359
rs1274808359 		1.000 0.120 15 42401667 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1999 2016
dbSNP: rs200379491
rs200379491 		1.000 0.120 15 42410432 missense variant A/G snv 1.5E-04 4.9E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1999 2016
dbSNP: rs200646556
rs200646556 		1.000 0.120 15 42399548 missense variant C/T snv 5.2E-05 5.6E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2006 2014
dbSNP: rs761211705
rs761211705 		1.000 0.120 15 42389944 intron variant G/A;C snv 2.0E-05
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 2005 2016
dbSNP: rs863224965
rs863224965 		0.925 0.120 15 42388935 inframe deletion TCCTACGAAGCTCTGAAAGGT/- delins
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1997 2017
dbSNP: rs886042557
rs886042557 		1.000 0.120 15 42409985 missense variant C/T snv 8.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 6 1997 2016
dbSNP: rs1275289254
rs1275289254 		1.000 0.120 15 42401811 splice donor variant G/A;T snv 4.1E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 1999 2016
dbSNP: rs1555421871
rs1555421871 		0.882 0.120 15 42399617 frameshift variant G/- delins
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2005 2015
dbSNP: rs774048743
rs774048743 		0.925 0.120 15 42359938 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2004 2007
dbSNP: rs778768583
rs778768583 		0.851 0.120 15 42410958 missense variant G/C snv 8.0E-06
CUI: C1869123
Disease: Limb-girdle muscular dystrophy type 2A
Limb-girdle muscular dystrophy type 2A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2005 2016